Canonical Allele Identifier: CA405329622

Gene: SCN1B

Linked Data

• ClinVar Variation Id: 1216107
• ClinVar RCV Id: RCV001593770 ; RCV002579455
• dbSNP Id: rs1412614368
• gnomAD v4: 19-35033970-G-A
• MyVariant Identifiers: chr19:g.35524874G>A (hg19) ; chr19:g.35033970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35033970G>A , CM000681.2:g.35033970G>A	GRCh38
NC_000019.9:g.35524874G>A , CM000681.1:g.35524874G>A	GRCh37
NC_000019.8:g.40216714G>A	NCBI36
NG_013359.1:g.8283G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415950.5:c.679G>A	ENSP00000396915.2:p.Gly227Arg
ENST00000262631.11:c.448+231G>A MANE Select	ENSP00000262631.3:n.448+231G>A
ENST00000415950.4:c.679G>A	ENSP00000396915.2:p.Gly227Arg
ENST00000596348.2:c.349+231G>A	ENSP00000492247.1:n.349+231G>A
ENST00000638536.1:c.448+231G>A	ENSP00000492022.1:n.448+231G>A
ENST00000640135.1:c.580G>A	ENSP00000492655.1:p.Gly194Arg
ENST00000675741.1:c.349+231G>A	ENSP00000502395.1:n.349+231G>A
ENST00000676410.1:c.349+231G>A	ENSP00000502717.1:n.349+231G>A
ENST00000262631.9:c.448+231G>A	ENSP00000262631.3:n.448+231G>A
ENST00000415950.3:c.679G>A	ENSP00000396915.2:p.Gly227Arg
ENST00000595652.5:c.235+231G>A	ENSP00000468848.1:n.235+231G>A
ENST00000596348.1:n.457+231G>A
NM_001037.4:c.448+231G>A	NP_001028.1:n.448+231G>A
NM_199037.3:c.679G>A	NP_950238.1:p.Gly227Arg
XM_005259144.1:c.349+231G>A	XP_005259201.1:n.349+231G>A
NM_001321605.1:c.349+231G>A	NP_001308534.1:n.349+231G>A
NM_199037.4:c.679G>A	NP_950238.1:p.Gly227Arg
NM_001037.5:c.448+231G>A MANE Select	NP_001028.1:n.448+231G>A
NM_001321605.2:c.349+231G>A	NP_001308534.1:n.349+231G>A
NM_199037.5:c.679G>A	NP_950238.1:p.Gly227Arg